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Article

Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability.

PloS one - 1 Jan 2017

Stafford Jaime L, Dyson Gregory, Levin Nancy K, Chaudhry Sophia, Rosati Rita, Kalpage Hasini, Wernette Courtney, Petrucelli Nancie, Simon Michael S, Tainsky Michael A

Abstract excerpt

While up to 25% of ovarian cancer (OVCA) cases are thought to be due to inherited factors, the majority of genetic risk remains unexplained. To address this gap, we sought to identify previously undescribed OVCA risk variants through the whole exome sequencing (WES) and candidate gene analysis of 48 women with ovarian cancer and selected for high risk of genetic inheritance, yet negative for any known pathogenic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28591191
DOI: 10.1371/journal.pone.0178450
PMCID: PMC5462348

Genes

BRCA1
ATM
BRCA2
CHEK1
FANCM
HMMR
MCM4
PALB2
POLK
POLQ
RAD1
RAD51D
RAD52
REC8
TP53I3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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